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学科主题临床医学
The first Chinese Pierson syndrome with novel mutations in LAMB2
Zhao, Dan1; Ding, Jie1; Wang, Fang1; Fan, Qingfeng1; Guan, Na1; Wang, Suxia; Zhang, Yan1
关键词Autosomal Recessive Genotype Myosis Pierson Syndrome
刊名NEPHROLOGY DIALYSIS TRANSPLANTATION
2010-03-01
DOI10.1093/ndt/gfp563
25期:3页:776-778
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Transplantation ; Urology & Nephrology
资助者National Nature Science Foundation of China ; National 11th Five-year Project ; National Nature Science Foundation of China ; National 11th Five-year Project
研究领域[WOS]Transplantation ; Urology & Nephrology
关键词[WOS]DISTINCT EYE ABNORMALITIES ; CONGENITAL NEPHROSIS ; MESANGIAL SCLEROSIS
英文摘要

Methods. A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing.

Results. Two novel mutations were identified, C757fsX767 and P1413fsX1451, which predicted truncated proteins and were confirmed in the paternal and maternal origins, respectively.

Conclusions. This is the first Chinese case of Pierson syndrome diagnosed by clinical manifestations and LAMB2 gene mutations. The phenotype may be different in different ethics.

语种英语
所属项目编号30170992 ; 30672259 ; 30830105 ; 30801250 ; 2006BAI05A07
资助者National Nature Science Foundation of China ; National 11th Five-year Project ; National Nature Science Foundation of China ; National 11th Five-year Project
WOS记录号WOS:000274987800021
引用统计
被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54940
专题北京大学第一临床医学院_儿科
作者单位1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Electron Microscopy, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Zhao, Dan,Ding, Jie,Wang, Fang,et al. The first Chinese Pierson syndrome with novel mutations in LAMB2[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION,2010,25(3):776-778.
APA Zhao, Dan.,Ding, Jie.,Wang, Fang.,Fan, Qingfeng.,Guan, Na.,...&Zhang, Yan.(2010).The first Chinese Pierson syndrome with novel mutations in LAMB2.NEPHROLOGY DIALYSIS TRANSPLANTATION,25(3),776-778.
MLA Zhao, Dan,et al."The first Chinese Pierson syndrome with novel mutations in LAMB2".NEPHROLOGY DIALYSIS TRANSPLANTATION 25.3(2010):776-778.
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